Endocrine Abstracts

Parathyroid carcinoma is an uncommon cause of PTH-dependent hypercalcemia. The clinical features of parathyroid carcinoma are due primarily to the effects of excessive secretion of PTH. Thus, signs and symptoms of hypercalcemia often dominate the clinical picture. The therapeutic goal at this point is to control the hypercalcemia. We describe two cases of parathyroid carcinoma, effectively treated with calcimimetic Cinacalcet (Mimpara®), the first of a new class of compou...

Background: The curative therapy of primary hyperparathyroidism (pHPT) is surgery. Data about ultrasound-guided laser ablation (LA) of parathyroid tumor are limited, however it could be a solution for patients with high surgery or anesthetic risk. We report our experience on LA of parathyroid tumors in 11 patients with pHPT with high surgery or anesthetic risk.Methods: LA was performed under ultrasound guidance with an output power of 3W. Total energy an...

Introduction: Ultrasound imagining of parathyroid lesions is often challenging, as they may be difficult to distinguish from thyroid lesions or enlarged lymph nodes.Aim: The aim of the study was to assess the value of parathyroid hormone determination in ultrasound-guided fine-needle aspirates-(FNA) in preoperative localization of parathyroid lesions.Materials and methods: We measured FNA–PTH in 30 consecutive patients with pr...

Background: McCune Albright syndrome (MAS) is a rare mosaic genetic disorder affecting 1/100 000 to 1/1 000 000 of the population. It arises from a somatic gain-of-function mutation in GNAS gene. The clinical picture is complex and includes fibrous dysplasia (FD), café-au-lait spots, precocious puberty and other hyperactive endocrinopathies. The degree of FGF23 overproduction is correlated with FD severity, and frank hypophosphatemia occurs only in patients with extensive...

Introduction: 24-hydroxylase, encoded by a CYP24A1 gene, is a crucial enzyme entailed in catabolism of vitamin D. Loss-of-function mutations of CYP24A1 result in hypercalcemia, not adequately concomitant high levels of 1,25(OH)2D and low PTH levels. The variety of clinical manifestations depends on age – mutations can lead to fatal infantile hypercalcemia among neonates (typically precipitated by supplementation of vitamin D), whereas adults’ symptoms are usually mil...

Background: Vitamin D is a dietary micronutrient responsible for calcium and phosphorus metabolism and multiple extraskeletal actions. The assessment of vitamin D status is commonly based on measurement of 25(OH)D total concentration in serum. However, the usage of LC-MS/MS analytical technique allows to reliably assess a panel of vitamin D metabolites in serum or plasma, which may help to investigate the metabolic paths of vitamin D, especially in populations at risk of defic...